Varaico: Literature-Extracted Genetic Variants

ZNF14

48 papers

RefSeq Summary

The protein encoded by this gene contains a zinc finger and a Kruppel-associated box (KRAB) domain. KRAB domain is known to be involved in the transcriptional repression of a number of zinc finger pro...

Pfam Domains

KRABaa 3–44UCSCKRAB box

zf-C2H2aa 103–125UCSCZinc finger, C2H2 type

zf-C2H2aa 169–191UCSCZinc finger, C2H2 type

zf-C2H2aa 197–218UCSCZinc finger, C2H2 type

zf-C2H2_6aa 223–248UCSCC2H2-type zinc finger

zf-C2H2aa 251–273UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 14

HGNC Alias Symbols

KOX6; GIOT-4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021030.3

p.H581fs

c.1741_1742fs

Surrounding Variants

1 paper

NM_021030.3

p.H581_T582delFs

c.1742_1745del4

1 paper

NM_021030.3

p.R588P

c.1763G>C

1 paper

NM_021030.3

p.R588Q

c.1763G>A

1 paper

NM_021030.3

p.F596S

c.1787T>C

1 paper

NM_021030.3

p.R603*

c.1807C>T

1 paper

NM_021030.3

p.E556D

c.1668G>T

1 paper

NM_021030.3

p.E556D

c.1668G>C

1 paper

NM_021030.3

p.S608T

c.1822T>A

1 paper

NM_021030.3

p.R547Q

c.1640G>A

1 paper

NM_021030.3

p.R542C

c.1624C>T

1 paper

NM_021030.3

p.R631*

c.1891C>T

1 paper

NM_021030.3

p.I524M

c.1572T>G